Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay

American Journal of Medical Genetics

Volumn 82, Issue 4, 1999, Pages 294-300

  Mohandas, T K ^a   Park, Jonathan P ^a   Spellman, Richard A ^a   Filiano, James J ^a   Mamourian, Alexander C ^a   Hawk, Arnold B ^a   Belloni, Dorothy R ^a   Noll, Walter W ^a   Moeschler, John B ^a  

^a DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

Author keywords

Agencies of the corpus callosum; Autism; Chromosome 15; Communication disorder; Duplication 15q; Mental retardation

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CORPUS CALLOSUM AGENESIS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PATERNITY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

AUTOANTIGENS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; CORPUS CALLOSUM; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; METHYLATION; MICROSATELLITE REPEATS; PHENOTYPE; PRADER-WILLI SYNDROME; RIBONUCLEOPROTEINS, SMALL NUCLEAR;

EID: 0033590679     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990212)82:4<294::AID-AJMG4>3.0.CO;2-U     Document Type: Article

References (24)

1. Baker P, Piven J, Schwartz S, Patil S. 1994. Brief report: duplication of chromosome 15q11-13 in two individuals with autistic disorder. J Autism Dev Disord 24:529-535.
2. Browne CE, Dennis NR, Maher E, Long FL, Nicholson JC, Sillibourne J, Barber JCK. 1997. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 61:1342-1352.
3. Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA. 1994. Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Dev Med Child Nerol 36:736-742.
4. Carrozzo R, Rossi E, Christian SL, Kittikamron K, Livieri C, Corrias A, Pucci L, Fois A, Simi P, Bosio L, Beccaria L, Zuffardi O, Ledbetter DH. 1997. Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. Am J Hum Genet 61:228-231.
5. Cheng SD, Spinner NB, Zackai EH, Knoll JHM. 1994. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55:753-759.
6. Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. 1993. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J Med Genet 30:529-531.
7. Cook EH, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. 1997. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934.
8. Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunnif C, Graham JM Jr, Jones MC, Kaback MM, Moeschler JB, Schaefer GB, Schwartz S, Tarleton J, Opitz J. 1997. Evaluation of mental retardation: Recommendations of a consensus conference: American College of Medical Genetics. Am J Med Genet 72:468-477.
9. De France HF, Beemer FA, Ippel PF. 1984. Duplication of chromosome 15q in a boy with the Prader-Willi syndrome: further cytogenetic confusion. Clin Genet 26:379-382.
10. Huang B, Crolla JA, Christian SL, Wolf-Ledbetter ME, Macha ME, Papenhausen PN, Ledbetter DH. 1997. Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes. Hum Genet 99: 11-17.
11. Jalal SM, Persons DL, Dewald GW, Lindor NM. 1994. Form of 15q proximal duplication appears to be a normal euchromatic variant. Am J Med Genet 52:495-497.
12. Kier EL, Truwit CL. 1996. The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. Am J Neroradiol 17:1631-1641.
13. Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. 1996. Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome. Am J Med Genet 66:77-80.
14. Lalande M. 1996. Parental imprinting and human disease. Ann Rev Genet 30:173-195.
15. Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM. 1991. Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 40:194-201.
16. Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG. 1996. Clinical heterogeneity in 16 patients with inv dup 15 chromosome: Cytogenetic and molecular studies, search for an imprinting effect. Eur J Hum Genet 4:88-100.
17. Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH. 1993. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy. Hum Molec Genet 2:143-151.
18. Park JP. 1996. Shared synteny of human chromosome 17 loci in Canids. Cytogenet Cell Genet 74:133-137.
19. Purandare SM, Patel PI. 1997. Recombination hotspots and human disease. Genome Res 7:773-786.
20. Repetto GM, White LM, Bader PJ, Johnson D, Knoll JHM. 1998. Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Am J Med Genet 79:82-89.
21. Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich, Schinzel AA. 1998. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 11:130-136.
22. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE. 1998. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 76:327-336.
23. Sutcliffe JS, Nakao M, Christian S, Örstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. 1994. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genetics 8:52-58.
24. Woods CG, Robinson M, Gardiner C, Roussounis T. 1997. Four cases of the condition described by Bundey with autism and a maternal 15q11-13 duplication. Am J Hum Genet 61:A117.